Variant report

Variant	rs12419177
Chromosome Location	chr11:36677521-36677522
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10400354	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10734444	0.89[EUR][1000 genomes]
rs10836582	0.86[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10836583	0.82[ASN][1000 genomes]
rs12272732	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12293560	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12418749	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12794469	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12804142	0.82[ASN][1000 genomes]
rs12807113	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1498336	0.86[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1498338	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16926234	0.82[ASN][1000 genomes]
rs16929258	0.86[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2227973	0.86[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3758874	0.86[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4325287	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59563638	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66816307	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7113441	0.82[ASN][1000 genomes]
rs7119197	1.00[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7942300	0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs7948751	0.89[EUR][1000 genomes]
rs7949234	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv832123	chr11:36582872-36757443	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv467792	chr11:36624187-36898373	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv554005	chr11:36624187-36898373	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv467793	chr11:36632515-37171833	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv554006	chr11:36632515-37171833	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36630000-36678800	Weak transcription	Brain Angular Gyrus	brain
2	chr11:36630600-36682000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr11:36641400-36681000	Weak transcription	Primary T cells from cord blood	blood
4	chr11:36642000-36681000	Weak transcription	Fetal Kidney	kidney
5	chr11:36648600-36681400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr11:36648800-36680600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:36650600-36687000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:36650800-36682600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:36651000-36684000	Weak transcription	HSMMtube	muscle
10	chr11:36653600-36680800	Weak transcription	Brain Anterior Caudate	brain
11	chr11:36653800-36684400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr11:36656400-36680600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:36656800-36677800	Weak transcription	Psoas Muscle	Psoas
14	chr11:36660800-36685800	Weak transcription	Fetal Stomach	stomach
15	chr11:36661200-36678600	Weak transcription	Fetal Thymus	thymus
16	chr11:36661400-36681200	Weak transcription	Gastric	stomach
17	chr11:36661600-36681200	Weak transcription	Colon Smooth Muscle	Colon
18	chr11:36666800-36679000	Weak transcription	Spleen	Spleen
19	chr11:36666800-36692800	Weak transcription	Fetal Heart	heart
20	chr11:36667400-36680800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr11:36668000-36683800	Weak transcription	Brain Germinal Matrix	brain
22	chr11:36668200-36680600	Weak transcription	Fetal Intestine Large	intestine
23	chr11:36668200-36680800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:36668200-36681000	Weak transcription	Brain Hippocampus Middle	brain
25	chr11:36669600-36680600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:36669800-36678400	Weak transcription	Aorta	Aorta
27	chr11:36669800-36685600	Weak transcription	Fetal Muscle Leg	muscle
28	chr11:36670200-36682600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr11:36670600-36680600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr11:36670600-36680600	Weak transcription	Fetal Lung	lung
31	chr11:36670600-36680600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr11:36670600-36680800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:36670600-36680800	Weak transcription	Left Ventricle	heart
34	chr11:36670600-36680800	Weak transcription	Ovary	ovary
35	chr11:36670600-36682800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr11:36670800-36680800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:36670800-36683600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr11:36671000-36680600	Weak transcription	Adipose Nuclei	Adipose
39	chr11:36671000-36683800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr11:36671800-36680600	Weak transcription	Liver	Liver
41	chr11:36671800-36681400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:36672000-36679000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:36672000-36680600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr11:36674600-36678800	Weak transcription	Thymus	Thymus
45	chr11:36675800-36678800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:36675800-36680600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr11:36677200-36679400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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